Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions
Authors: Eduardo A. Maury, Maxwell A. Sherman, Giulio Genovese, Thomas G. Gilgenast, Tushar Kamath, S.J. Burris, Prashanth Rajarajan, Erin Flaherty, Schahram Akbarian, Andrew Chess, Steven A. McCarroll, Po-Ru Loh, Jennifer E. Phillips-Cremins, Kristen J. Brennand, Evan Z. Macosko, James T.R. Walters, Michael O’Donovan, Patrick Sullivan, Jonathan Sebat, Eunjung A. Lee, Christopher A. Walsh, Christian R. Marshall, Daniele Merico, Bhooma Thiruvahindrapuram, Zhouzhi Wang, Stephen W. Scherer, Daniel P Howrigan, Stephan Ripke, Brendan Bulik-Sullivan, Kai-How Farh, Menachem Fromer, Jacqueline I. Goldstein, Hailiang Huang, Phil Lee, Mark J. Daly, Benjamin M. Neale, Richard A. Belliveau, Sarah E. Bergen, Elizabeth Bevilacqua, Kimberley D. Chambert, Colm O'Dushlaine, Edward M. Scolnick, Jordan W. Smoller, Jennifer L. Moran, Aarno Palotie, Tracey L. Petryshen, Wenting Wu, Douglas S. Greer, Danny Antaki, Aniket Shetty, Madhusudan Gujral, William M. Brandler, Dheeraj Malhotra, Karin V. Fuentes Fajarado, Michelle S. Maile, Peter A. Holmans, Noa Carrera, Nick Craddock, Valentina Escott-Price, Lyudmila Georgieva, Marian L. Hamshere, David Kavanagh, Sophie E. Legge, Andrew J. Pocklington, Alexander L. Richards, Douglas M. Ruderfer, Nigel M. Williams, George Kirov, Michael J. Owen, Dalila Pinto, Guiqing Cai, Kenneth L. Davis, Elodie Drapeau, Joseph I Friedman, Vahram Haroutunian, Elena Parkhomenko, Abraham Reichenberg, Jeremy M. Silverman, Joseph D. Buxbaum, Enrico Domenici, Ingrid Agartz, Srdjan Djurovic, Morten Mattingsdal, Ingrid Melle, Ole A. Andreassen, Erik G. Jönsson, Erik Söderman, Margot Albus, Madeline Alexander, Claudine Laurent, Douglas F. Levinson, Farooq Amin, Joshua Atkins, Murray J. Cairns, Rodney J. Scott, Paul A. Tooney, Jing Qin Wu, Silviu A. Bacanu, Tim B. Bigdeli, Mark A. Reimers, Bradley T. Webb, Aaron R. Wolen, Brandon K. Wormley, Kenneth S. Kendler, Brien P. Riley, Anna K. Kähler, Patrik K.E. Magnusson, Christina M. Hultman, Marcelo Bertalan, Thomas Hansen, Line Olsen, Henrik B. Rasmussen, Thomas Werge, Manuel Mattheisen, Donald W. Black, Richard Bruggeman, Nancy G. Buccola, Randy L. Buckner, Joshua L. Roffman, William Byerley, Wiepke Cahn, René S Kahn, Eric Strengman, Roel A. Ophoff, Vaughan J. Carr, Stanley V. Catts, Frans A. Henskens, Carmel M. Loughland, Patricia T. Michie, Christos Pantelis, Ulrich Schall, Assen V. Jablensky, Brian J. Kelly, Dominique Campion, Rita M. Cantor, Wei Cheng, C. Robert Cloninger, Dragan M Svrakic, David Cohen, Paul Cormican, Gary Donohoe, Derek W. Morris, Aiden Corvin, Michael Gill, Benedicto Crespo-Facorro, James J. Crowley, Martilias S. Farrell, Paola Giusti-Rodríguez, Yunjung Kim, Jin P. Szatkiewicz, Stephanie Williams, David Curtis, Jonathan Pimm, Hugh Gurling, Andrew McQuillin, Michael Davidson, Mark Weiser, Franziska Degenhardt, Andreas J. Forstner, Stefan Herms, Per Hoffmann, Andrea Hofman, Sven Cichon, Markus M. Nöthen, Jurgen Del Favero, Lynn E. DeLisi, Robert W. McCarley, Deborah L. Levy, Raquelle I. Mesholam-Gately, Larry J. Seidman, Dimitris Dikeos, George N. Papadimitriou, Timothy Dinan, Jubao Duan, Alan R. Sanders, Pablo V. Gejman, Elliot S. Gershon, Frank Dudbridge, Peter Eichhammer, Johan Eriksson, Veikko Salomaa, Laurent Essioux, Ayman H. Fanous, James A. Knowles, Michele T. Pato, Carlos N. Pato, Josef Frank, Sandra Meier, Thomas G. Schulze, Jana Strohmaier, Stephanie H. Witt, Marcella Rietschel, Lude Franke, Juha Karjalainen, Robert Freedman, Ann Olincy, Nelson B. Freimer, Shaun M. Purcell, Panos Roussos, Eli A. Stahl, Pamela Sklar, Jordan W. Smoller, Ina Giegling, Annette M. Hartmann, Bettina Konte, Dan Rujescu, Stephanie Godard, Joel N. Hirschhorn, Tune H. Pers, Alkes Price, Tõnu Esko, Jacob Gratten, S. Hong Lee, Peter M. Visscher, Naomi R. Wray, Bryan J. Mowry, Lieuwe de Haan, Carin J. Meijer, Mark Hansen, Masashi Ikeda, Nakao Iwata, Inge Joa, Luba Kalaydjieva, Matthew C. Keller, James L. Kennedy, Clement C. Zai, Jo Knight, Bernard Lerer, Kung-Yee Liang, Jeffrey Lieberman, T. Scott Stroup, Jouko Lönnqvist, Jaana Suvisaari, Brion S. Maher, Wolfgang Maier, Jacques Mallet, Colm McDonald, Andrew M. McIntosh, Douglas H.R. Blackwood, Andres Metspalu, Lili Milani, Vihra Milanova, Younes Mokrab, David A. Collier, Bertram Müller-Myhsok, Kieran C. Murphy, Robin M. Murray, John Powell, Inez Myin-Germeys, Jim Van Os, Igor Nenadic, Deborah A. Nertney, Gerald Nestadt, Ann E. Pulver, Kristin K. Nicodemus, Laura Nisenbaum, Annelie Nordin, Rolf Adolfsson, Eadbhard O'Callaghan, Sang-Yun Oh, F. Anthony O'Neill, Tiina Paunio, Olli Pietiläinen, Diana O. Perkins, Digby Quested, Adam Savitz, Qingqin S. Li, Sibylle G. Schwab, Jianxin Shi, Chris C.A. Spencer, Srinivas Thirumalai, Juha Veijola, John Waddington, Dermot Walsh, Dieter B. Wildenauer, Elvira Bramon, Ariel Darvasi, Danielle Posthuma, David St. Clair, Omar Shanta, Marieke Klein, Peter J. Park, Daniel Weinberger, John V. Moran, Fred H. Gage, Flora M. Vaccarino, Joseph Gleeson, Gary Mathern, Eric Courchesne, Subhojit Roy, Sara Bizzotto, Michael Coulter, Caroline Dias, Alissa D'Gama, Javier Ganz, Robert Hill, August Yue Huang, Sattar Khoshkhoo, Sonia Kim, Michael Lodato, Michael Miller, Rebeca Borges-Monroy, Rachel Rodin, Zinan Zhou, Craig Bohrson, Chong Chu, Isidro Cortes-Ciriano, Yanmei Dou, Alon Galor, Doga Gulhan, Minseok Kwon, Joe Luquette, Vinay Viswanadham, Attila Jones, Chaggai Rosenbluh, Sean Cho, Ben Langmead, Jeremy Thorpe, Jennifer Erwin, Andrew Jaffe, Michael McConnell, Rujuta Narurkar, Apua Paquola, Jooheon Shin, Richard Straub, Alexej Abyzov, Taejeong Bae, Yeongjun Jang, Yifan Wang, Fred Gage, Sara Linker, Patrick Reed, Meiyan Wang, Alexander Urban, Bo Zhou, Xiaowei Zhu, Reenal Pattni, Aitor Serres Amero, David Juan, Irene Lobon, Tomas Marques-Bonet, Manuel Solis Moruno, Raquel Garcia Perez, Inna Povolotskaya, Eduardo Soriano, Danny Antaki, Dan Averbuj, Laurel Ball, Martin Breuss, Xiaoxu Yang, Changuk Chung, Sarah B. Emery, Diane A. Flasch, Jeffrey M. Kidd, Huira C. Kopera, Kenneth Y. Kwan, Ryan E. Mills, John B. Moldovan, Chen Sun, Xuefang Zhao, Weichen Zhou, Trenton J. Frisbie, Adriana Cherskov, Liana Fasching, Alexandre Jourdon, Sirisha Pochareddy, Soraya Scuderi, Nenad Sestan
Journal: Cell Genomics (2023)

While germline copy-number variants (CNVs) contribute to schizophrenia (SCZ) risk, the contribution of somatic CNVs (sCNVs)-present in some but not all cells-remains unknown. We identified sCNVs using blood-derived genotype arrays from 12,834 SCZ cases and 11,648 controls, filtering sCNVs at loci recurrently mutated in clonal blood disorders. Likely early-developmental sCNVs were more common in cases (0.91%) than controls (0.51%, p = 2.68e-4), with recurrent somatic deletions of exons 1-5 of the